C3553264[trait identifier] AND "Institute of Medical Genetics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 427893	NM_001384732.1(CPLANE1):c.5733T>G (p.Tyr1911Ter)	CPLANE1 (Y1911*)	Single nucleotide variant (nonsense)	Joubert syndrome 17	GPathogenic
Select item 427895	NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)	CPLANE1 (A1783D)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GPathogenic/Likely pathogenic
Select item 427892	NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly)	CPLANE1 (D1548G)	Single nucleotide variant (missense variant)	Joubert syndrome 17	GLikely pathogenic
Select item 427894	NM_001384732.1(CPLANE1):c.4314del (p.Glu1439fs)	CPLANE1, LOC129389274 (E1439fs)	Deletion (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 194561	NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe)	CPLANE1 (S875F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 157513	NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)	CPLANE1	Deletion (frameshift variant)	Orofaciodigital syndrome type 6 +2 more	GPathogenic

ClinVar